Varaico: Literature-Extracted Genetic Variants

EPHA5

345 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 61–233UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 234–291UCSCEphrin cysteine rich domain

fn3aa 359–458UCSCFibronectin type III domain

fn3aa 470–558UCSCFibronectin type III domain

EphA2_TMaa 576–673UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 676–933UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A5

HGNC Alias Symbols

Hek7; TYRO4; CEK7; EHK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001281766.3

p.L673M

c.2017T>A

Surrounding Variants

1 paper

NM_001281766.3

p.E680K

c.2038G>A

1 paper

NM_001281766.3

p.K695E

c.2083A>G

1 paper

NM_001281766.3

p.G702S

c.2104G>A

1 paper

NM_001281766.3

p.I706F

c.2116A>T

1 paper

NM_001281766.3

p.I716_H717insT

c.2146_2150ins3

1 paper

NM_001281766.3

p.L718V

c.2152T>G

1 paper

NM_001281766.3

p.G720C

c.2158G>T

1 paper

NM_001281766.3

p.V721L

c.2161G>T

1 paper

NM_001281766.3

p.V721L

c.2161G>C

1 paper

NM_004439.8

p.G682A

c.2045G>C

1 paper

NM_001281766.3

p.V659G

c.1976T>G

1 paper

NM_001281766.3

p.E657D

c.1971G>T